Works matching IS 03406717 AND DT 2000 AND VI 106 AND IP 4

Results: 12

Lipoprotein lipase gene variation is associated with adipose tissue lipoprotein lipase activity, and lipoprotein lipid and glucose concentrations in overweight postmenopausal women.
Published in:
Human Genetics, 2000, v. 106, n. 4, p. 420, doi. 10.1007/s004390000292
By:
- Nicklas, Barbara J.;
- Ferrell, Robert E.;
- Rogus, Ellen M.;
- Berman, Dora M.;
- Ryan, Alice S.;
- Dennis, Karen E.;
- Goldberg, Andrew P.
Publication type:
Article
Structure and mutation analysis of the gene encoding DNA fragmentation factor 40 (caspase-activated nuclease), a candidate neuroblastoma tumour suppressor gene.
Published in:
Human Genetics, 2000, v. 106, n. 4, p. 406, doi. 10.1007/s004390000257
By:
- Judson, Hannah;
- van Roy, Nadine;
- Strain, Lisa;
- Vandesompele, Jo;
- Van Gele, Mireille;
- Speleman, Frank;
- Bonthron, David T.
Publication type:
Article
Individuals with abnormal phenotype and normal G-banding karyotype: improvement and limitations in the diagnosis by the use of 24-colour FISH.
Published in:
Human Genetics, 2000, v. 106, n. 4, p. 392, doi. 10.1007/s004390000268
By:
- Bezrookove, Vladimir;
- Hansson, Kerstin;
- van der Burg, Marja;
- van der Smagt, Jasper J.;
- Hilhorst-Hofstee, Yvonne;
- Wiegant, Joop;
- Beverstock, Geoff C.;
- Raap, Anton K.;
- Tanke, Hans;
- Breuning, Martijn H.;
- Rosenberg, Carla
Publication type:
Article
Age of the intronic GAA triplet repeat expansion mutation in Friedreich ataxia.
Published in:
Human Genetics, 2000, v. 106, n. 4, p. 455, doi. 10.1007/s004390000261
By:
- Colombo, Roberto;
- Carobene, Anna
Publication type:
Article
Genotype-phenotype correlations in families with deletions in the von Hippel-Lindau (VHL) gene.
Published in:
Human Genetics, 2000, v. 106, n. 4, p. 425, doi. 10.1007/s004390000265
By:
- Hes, Frederik;
- Zewald, Richard;
- Peeters, Ton;
- Sijmons, Rolf;
- Links, Thera;
- Verheij, Joke;
- Matthijs, Gert;
- Legius, Eric;
- Mortier, Geert;
- van der Torren, Kors;
- Rosman, Malou;
- Lips, Cornelis;
- Pearson, Peter;
- van der Luijt, Rob
Publication type:
Article
Association of butyrylcholinesterase K variant with cholinesterase-positive neuritic plaques in the temporal cortex in late-onset Alzheimer's disease.
Published in:
Human Genetics, 2000, v. 106, n. 4, p. 447, doi. 10.1007/s004390000277
By:
- Lehmann, Donald J.;
- Nagy, Zsuzsanna;
- Litchfield, Suzanne;
- Cortina Borja, Mario;
- Smith, A. David
Publication type:
Article
Fine mapping of the neurally expressed gene SOX14 to human 3q23, relative to three congenital diseases.
Published in:
Human Genetics, 2000, v. 106, n. 4, p. 432, doi. 10.1007/s004390000266
By:
- Hargrave, Murray;
- James, Kristy;
- Nield, Kerry;
- Toomes, Carmel;
- Georgas, Kylie;
- Sullivan, Timothy;
- Verzijl, Harriet T. F. M.;
- Oley, Christine A.;
- Little, Melissa;
- De Jonghe, Peter;
- Kwon, Jennifer M.;
- Kremer, Hannie;
- Dixon, Michael J.;
- Timmerman, Vincent;
- Yamada, Toshiya;
- Koopman, Peter
Publication type:
Article
Multiple origins of Tibetan Y chromosomes.
Published in:
Human Genetics, 2000, v. 106, n. 4, p. 453, doi. 10.1007/s004390000259
By:
- Yaping Qian;
- Binzhi Qian;
- Bing Su;
- Jiankun Yu;
- Yuehai Ke;
- Zhengtao Chu;
- Lei Shi;
- Daru Lu;
- Jiayou Chu;
- Li Jin
Publication type:
Article
Association studies of 33 single nucleotide polymorphisms (SNPs) in 29 candidate genes for bronchial asthma: positive association of a T924C polymorphism in the thromboxane A2 receptor gene.
Published in:
Human Genetics, 2000, v. 106, n. 4, p. 440, doi. 10.1007/s004390000267
By:
- Unoki, Motoko;
- Furuta, Sachiyo;
- Onouchi, Yoshihiro;
- Watanabe, Otsu;
- Doi, Satoru;
- Fujiwara, Hiroshi;
- Miyatake, Akihiko;
- Fujita, Kimie;
- Tamari, Mayumi;
- Nakamura, Yusuke
Publication type:
Article
CYP21 mutations in Brazilian patients with 21-hydroxylase deficiency.
Published in:
Human Genetics, 2000, v. 106, n. 4, p. 414, doi. 10.1007/s004390000276
By:
- Witchel, Selma F.;
- Smith, Rhonda;
- Crivellaro, Carlo Enrico;
- Manna, Thais Della;
- Dichtchekenian, Vaê;
- Setian, Nuvarte;
- Damiani, Durval
Publication type:
Article
High frequency hearing loss correlated with mutations in the GJB2 gene.
Published in:
Human Genetics, 2000, v. 106, n. 4, p. 399, doi. 10.1007/s004390000273
By:
- Wilcox, Stephen A.;
- Saunders, Kerryn;
- Osborn, Amelia H.;
- Arnold, Angela;
- Wunderlich, Julia;
- Kelly, Therese;
- Collins, Veronica;
- Wilcox, Leah J.;
- Gardner, R. J. McKinlay;
- Kamarinos, Maria;
- Cone-Wesson, Barbara;
- Williamson, Robert;
- Dahl, Hans-Henrik M.
Publication type:
Article
Characterization of the human complex I NDUFB7 and 17.2-kDa cDNAs and mutational analysis of 19 genes of the HP fraction in complex I-deficient-patients.
Published in:
Human Genetics, 2000, v. 106, n. 4, p. 385, doi. 10.1007/s004390000278
By:
- Triepels, Ralf;
- Smeitink, Jan;
- Loeffen, Jan;
- Smeets, Roel;
- Trijbels, Frans;
- van den Heuvel, Lambert
Publication type:
Article